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Neuroscience Week 1 > Epilepsy > Flashcards

Epilepsy Flashcards

1
Q

Na and Ca channels

A

6 membrane spanning regions x 4

-B subunit regulates function

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2
Q

K channels

A
  • 6,2,4, or 7 membrane spanning regions

- voltage sensor

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3
Q

seizure

A
  • abnormal excessive and synchronous electrical discharges of brain neuronal network
  • leading to paroxysmal events characterized by clinical signs/symptoms
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4
Q

aura

A
  • ictal
  • part of seizure
  • symptoms hard to define
  • sense that one is coming
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5
Q

prodrom

A
  • pre-ictal

- sensation that it’s coming/ other symptoms

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6
Q

ictal

A

seizure period/ events due to seizure

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7
Q

interictal

A

-b/n 2 seizures, no symptoms

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8
Q

post ictal

A

-hypoactive right after seizure

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9
Q

partial seizures

A
  • one hemisphere
  • simple doesn’t alter consciousness, complex does
  • both can progress to secondary generalized
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10
Q

generalized seizures

A

-convulsive or not

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11
Q

partial seizures 2

A

A. simple- with motor, somatosensory, special, autonomic, psychic
B complex- simple partial onset followed by impaired consciousness, or can start with impaired
C. evolving-simple, complex, or simple to complex to generalized

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12
Q

generalized 2

A 
A. Absence seizures- typical, atypical (behavior arrest)
B myoclonic
C clonic
D tonic
E tonic-clonic
F atonic
G unclassified
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13
Q

epilepsy

A

disease of the brain characterized by enduring predisposition to generate epileptic seizures

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14
Q

epilepsy syndrome

A
  • electroclinical syndrome

- complex of clinical features, signs and symptoms that together define a distinctive, recognizable clinical disorder

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15
Q

idiopathic

A

genetic

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16
Q

symptomatic

A

known or suspected disorder of CNS

17
Q

cryptogenic

A

unknown cause

18
Q

epileptic channelopathies

A
  • lowered seizure threshold based on a mutation causing changes in the current carried by the channel
  • enhanced of reduced function
  • majority AD and de novo
19
Q

a subunit of Na channel

A
  • 9 variations
  • Nav1.1, 1.2, 1.3, 1.6 encoded by SCN1A, 2A, 3A, 8A
  • mostly in CNS
  • 1.1 and 1.3 in cell bodies
  • 1.2 in unmyelinated axons and dendrites
    1. 6 in myelinated
20
Q

severe myoclonic epilepsy of infancy

A

-SMEI or Dravet syndrome
1st year- seizures associated with elevated body temp (fever or bathing)
-progressively prolonged and cluster seizures
-status epilepticus
2nd year- psychomotor delay
-ataxia, cognitive impairment
-both caused by reduction of Na channel density, loss of high frequency AP and loss of inhibitory function of GABA in interneurons and then purkinje cells
-treat by re-establishing GABA action-decrease reuptake or increase response of post synapse- tiagabine and clonazepam

21
Q

generalized epilepsy with febrile seizures plus

A
  • milder than SMEI
  • usually no cognitive impairment
  • first mutation found in SCN1B encoding B1 subunit
  • later SNC1A mutations were found
  • missense mutations cause loss of function of fast inactivation–>gain of function of Na channels–>persistant Na current
  • trt-antepileptic meds that can bind to mutant channels and stabilize folding of proteins
22
Q

febrile seizures

A
  • seizure occurring in childhood after 1 month of age
  • associated with a febrile illness not caused by and infection of the CNS
  • without previous neonatal seizures of a previous unprovoked seizure
  • and not meeting criteria for other acute symptomatic seizures
  • mutations in Nav1.1
  • reduction in peak Na currents
  • positive shift in voltage dependence of activation
23
Q

Nav1.1 mutations

A
  • missense-febrile, mild/moderate
  • missense moderate/severe- GEFS+
  • truncation/loss of function-SMEI
24
Q

K channelopathies

A
  • Kv 7.2 and 7.3 subunit encoded by KCNQ2 and Q3
  • mostly in cells with M current- close to resting potential and regulated by muscarinic and other G protein coupled receptors
  • missense mutation-impaired flux of K-loss of function–>decreased M current
  • benign familial neonatal convulsion- normal development and behavior, brief generalized and partial seizures, resolves by age 6 weeks
25
Q

k channelopathy 2

A
  • pore forming subunit-encoded by KCNMA1

- mutation-more influx of K, generalized epilepsy and paroxysmal dyskinesia

26
Q

Ca channelopathy

A
  • T type
  • can have rhythmic burst firing because:
  • activated with small depol
  • inactivated with maintained depol
  • cycle continues
  • mostly in thalamic cells
  • Cav3.1, 3.2, 3.3- CACNA1G, 1H, 1I
  • mutations-gain of function-excessive synchronous rhythmic burst firing, idiopathic generalized epilepsy
27
Q

Cl channelopathies

A
  • 12 trans membrane segments
  • maintain the Cl gradient required for GABA synapses hyperpolarization
  • mutations in CLCN2 gene can lead to idiopathic generalized epilepsy
28
Q

treatment

A
  • anti-epileptic drugs
  • decrease hyperexcitability, Na channel blockers, increasing GABA
  • surgery
  • not all seizures are channelopathies
  • surgery may be considered in localization related epilepsy that is medically refractory
  • fail to respond to 2 meds
  • if seizure onset zone can be identified and is not in eloquent cortex
29
Q

AEDs and ion channels

A
  • mechanism of action of a large group of AEDs is stabilizing or blocking Na channels
  • prevent return of the channels to the active state by prolonging the inactive state

Neuroscience Week 1 (11 decks)

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